|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin specific peptidase 44|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6615 (G1)|
|Chromosomal Location||93831555-93858088 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 93846489 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 267 (V267A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000149020 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095333] [ENSMUST00000216224]|
AA Change: V267A
PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit chromosomal instability, aneuploidy and increased tumor incidence. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Usp44||
(F):5'- TACGCTTACAAGGCTCCTCG -3'
(R):5'- TGGAGCATACGAAGCCTTTC -3'
(F):5'- CACAATCGAAATCGTGCC -3'
(R):5'- GGAGCATACGAAGCCTTTCTCTTTC -3'